Canonical Allele Identifier: CA2147299560

Gene: EIF2B2

Linked Data

• dbSNP Id: rs1864758685
• gnomAD v4: 14-75006178-T-TTGAAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006179_75006186dup , CM000676.2:g.75006179_75006186dup	GRCh38
NC_000014.8:g.75472882_75472889dup , CM000676.1:g.75472882_75472889dup	GRCh37
NC_000014.7:g.74542635_74542642dup	NCBI36
NG_013333.1:g.8271_8278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+218_693+225dup MANE Select	ENSP00000266126.5:n.693+218_693+225dup
ENST00000266126.9:c.693+218_693+225dup	ENSP00000266126.5:n.693+218_693+225dup
ENST00000553401.5:c.691+218_691+225dup	ENSP00000451681.1:n.691+218_691+225dup
ENST00000554748.2:c.57+218_57+225dup	ENSP00000452582.2:n.57+218_57+225dup
ENST00000556028.5:c.*41+218_*41+225dup	ENSP00000452311.1:n.*41+218_*41+225dup
NM_014239.3:c.693+218_693+225dup	NP_055054.1:n.693+218_693+225dup
NM_014239.4:c.693+218_693+225dup MANE Select	NP_055054.1:n.693+218_693+225dup